Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Synonyms	SANDO
Definitions	A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.
ID	http://purl.obolibrary.org/obo/DOID_0111276
database_cross_reference	MESH:C537583 OMIM:607459 ORDO:70595 UMLS_CUI:C1843851 SNOMEDCT_US_2022_09_01:717266001
definition	A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.
has exact synonym	SANDO autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0111276
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
notation	DOID:0111276
prefLabel	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_700

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537583	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/607459	Online Mendelian Inheritance in Man	LOOM